检索结果-南通市图书馆

Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

World Journal of Gastroenterology 2017年第48期23卷 8544-8552页

作者： Takashi Ohya Masakatsu Yanagimachi Kentaro Iwasawa Shuichiro Umetsu Tsuyoshi Sogo Ayano Inui Tomoo Fujisawa Shuichi Ito Department of Pediatrics Yokohama City University Department of Pediatric Hepatology and Gastroenterology Saiseikai Yokohama-shi Tobu Hostopital Department of Pediatrics Tokyo Medical and Dental University

AIM To screen primary immunodeficiency,Wiskott-Aldrich syndrome(WAS),and chronic granulomatous disease(CGD) among children with inflammatory bowel disease(IBD).METHODS This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein(WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent,we performed genetic analysis to determine the cause of this. RESULTS Eighteen patients were classified as having ulcerative colitis(n = 10),Crohn's disease(n = 5),or IBDunclassified(n = 3). In total,three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T ***460 Ser mutation,which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However,with respect to the major symptoms of WAS,none of these three patients showed either thrombocytopenia or increased susceptibility to infection,but one patient showed generalized eczema. No CGD patients were discovered in this *** Despite the lack of typical clinical manifestations of WAS,low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients.

关键词： Inflammatory bowel disease wiskottaldrich syndrome Primary immunodeficiency Children Screening

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：